A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2273939



Internal ID17784366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:13051223..13053390hg38UCSC Ensembl
Innerchr3:13092723..13094890hg19UCSC Ensembl
Innerchr3:13067723..13069890hg18UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg382168
hg192168
hg182168
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966990
Supporting Variants
SamplesHGDP00665
Known GenesIQSEC1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2273939
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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